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Part Description

LP150238-6   t(9;22)(q34.1;q11)(ABL1,BCR)
Chronic myelogenous leukemia (CML), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML) are associated with the fusion of the breakpoint cluster gene (BCR) at chromosome 22q11 to the Abelson gene (ABL1) at chromosome 9q23. The t(9;22)(BCR-ABL1) gene translocation leads to the cytogenetic finding known as the Philadelphia chromsome (Ph'). Various breakpoints within the BCR and ABL1 genes have been described. Most cases of CML are due to a fusion of BCR exon 13 (e13 or b2) or BCR exon 14 (e14 or b3) to the ABL exon 2 (a2). The b2a2 (e13a2) and b3a2 (e14a2) fused transcripts, also known as major break points, produce a 210-kDa protein (p210). The fused transcript resulting in a 190-kDa protein (e1a2 or less common e1a3), also known as minor break points, is found in approximately 75% of childhood ALL patients and 50% of adult ALL patients. Other rarely reported fused transcripts include e6a2, e19a2 (p230), e13a3, and e14a3. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points [Presence] in Blood or Tissue by Molecular genetics method
Short Name
t(9;22)(ABL1,BCR) Major Bld/T Ql
Display Name
t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
t(9;22)(q34.1;q11)(ABL1,BCR) major break point analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points
    LP19850-4
    • Analyte
      t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points
      LP19850-4
      • Component Numerator
        t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points
        LP19850-4
        • Component Numerator Core
          t(9;22)(q34.1;q11)(ABL1,BCR)
          LP150238-6
        • Component Numerator Core Suffix
          fusion transcript major break points
          LP150244-4
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Arb
    LP6781-1
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.TRNLOC
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73 (MIN)
Change Reason
Updated Component part to harmonize with ISCN guidelines and current LOINC nomenclature.; Changed Order_Obs from 'Observation Only' to 'Both' to fit current order use cases.
Order vs. Observation
Both
Common Test Rank Get Info
8094

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Fúzní transkript t(9;22)(q34.1;q11)(ABL1,BCR) velké body zlomu:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)t(9;22)(q34.1;q11)(ABL1,BCR) μείζονα σημεία διακοπής μεταγραφών συγχώνευσης:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: Arb MOLPATH MOLPATH.TRNLOC Ord Pt t(9;22)(q34.1;q11)(ABL1,BCR) Αίμα Αίμα/Ιστός Ιστός μείζονα σημεία διακοπής μεταγραφών συγχώνευσης μεταγραφή συγχώνευσης Μοριακή γενετική
es-ARSpanish (Argentina)puntos de rupturas mayores de translocación del gen T(9,22)(ABL1,BCR):arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ESSpanish (Spain)t(9;22)(q34.1;q11)(ABL1,BCR) punto de rotura mayor del transcrito de fusion:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)t (9; 22) (q34.1; q11) (ABL1, BCR) puntos de ruptura principales de la transcripción de fusión:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)t(9;22)(q34.1;q11)(ABL1,BCR) transcrit de fusion point de rupture majeur:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)t(9,22)(q34.1,q11)(ABL1,BCR), punti di rottura principali di trascritto di fusione:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Genetica molecolare Patologia molecolare Punti di rottura maggiori di traslocazione t(9,22)(ABL1,BCR) Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci Traslocazione genetica
ko-KRKorean (Korea, Republic Of)t(9,22)(ABL1,BCR) 유전자 전위 주변 곡점:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NLDutch (Netherlands)t(9;22)(q34.1;q11)(ABL1,BCR) fusietranscript major breakpoints:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)t(9;22)(q34.1;q11)(ABL1,BCR) główne punkty przerwania transkryptu fuzyjnego:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna
pt-BRPortuguese (Brazil)t(9,22)(AcL1,BCR) translocação do gene maior ponto de quebra:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; t(9,22)(AcL1,BCR) Maj; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Philadelphia chromosome; t(9,22)(q34,q11); Ph chromosome; T prime; Mbr; ALL; BCR1; Chronic myeloid leukemia; CML; Breakpoint cluster region; D22S11; D22S662; PHL; v-Acl Acelson murine leukemia viral oncogene homolog 1; AcL; JTK7; p150; MOLPATH.TRANSLOCATION; MOLPATH.TRANSLOCATION; Molecular pathology
ru-RURussian (Russian Federation)t(9;22)(q34.1;q11)(ABL1,BCR) слияния транскрипт major break points:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный слияния транскрипт мажорная точка разрыва Ткань и мазки Точка во времени;Момент химерная РНК, закодированная слитым геном
tr-TRTurkish (Turkey)t(9;22)(q34.1;q11)(ABL1,BCR) füzyon transkriptt major kırılma noktaları:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CNChinese (China)t(9;22)(q34.1;q11)(ABL1,BCR) 融合转录物主要断裂点:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: ABL CML JTK7 Mbr p150 T(9,22)(ABL1,BCR) 基因易位主要断裂点 v-abl Abelson murine leukemia viral oncogene homolog 1 v-abl Abelson 小鼠白血病病毒癌基因同源体 1 v-abl Abelson 小鼠白血病病毒肿瘤基因同源体 1 v-abl Abelson 小鼠白血病病毒致癌基因同源体 1 v-abl Abelson 鼠科动物白血病病毒致癌基因同源体 1 v-abl Abelson 鼠科白血病病毒致癌基因同源体 1 主要断点（Major break points，Mbr） 主要断点区 主要断点区（major breakpoint region, mbr） 主要断点类 主要断裂区 主要断裂区（major breakpoint region, mbr） 主要断裂点 主要断裂点（Major break points，Mbr） 主要断裂点类 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因易位;分子病理学.易位;分子病理学试验.基因易位;分子病理学试验.易位;分子病理学试验类.易位;基因易位 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 慢性粒细胞性白血病 慢性粒细胞白血病 慢性粒细胞白血病（Chronic myeloid leukemia，CML） 慢性髓系白血病 断点簇集区 断裂点丛集区 断裂点簇集区 断裂点聚集区 断裂点集中区 断裂点集中区（Breakpoint cluster region，BCR） 时刻;随机;随意;瞬间 易位(9;22)(q34.1;q11)(ABL1,BCR) 未作说明的组织;组织;组织 & 涂片 融合转录物（转录本、转录产物、转录子、转录）;融合基因转录本;融合转录 融合转录物（转录本、转录产物、转录子、转录）主要断裂点;融合基因转录本主要断裂点;融合转录本主要断点 血;血液 限制性断裂区

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21822-2